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| Calcium and Phosphate disorders v0.24 | KL | Bryony Thompson Marked gene: KL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v0.24 | KL | Bryony Thompson Gene: kl has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v0.24 | KL | Bryony Thompson Publications for gene: KL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v0.23 | KL | Bryony Thompson Phenotypes for gene: KL were changed from to Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994; Hyperphosphatemia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v0.22 | KL | Bryony Thompson Mode of inheritance for gene: KL was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v0.21 | KL | Bryony Thompson Classified gene: KL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v0.21 | KL | Bryony Thompson Gene: kl has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v0.20 | KL | Bryony Thompson reviewed gene: KL: Rating: AMBER; Mode of pathogenicity: None; Publications: 17710231, 31013726, 9363890; Phenotypes: Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994, Hyperphosphatemia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v0.0 | KL |
Zornitza Stark gene: KL was added gene: KL was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green Mode of inheritance for gene: KL was set to Unknown |
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